Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
13 | g.32340101_32340110delinsCATTCACATA | CA2082827103 | BRCA2 | c.5746_5755delinsCATTCACATA (p.His1916=) c.5377_5386delinsCATTCACATA (p.His1793=) n.5746_5755delinsCATTCACATA | |
13 | g.32340103_32340111del | CA609453788 | BRCA2 | c.5748_5756del (p.His1916_Lys1919delinsGln) c.5379_5387del (p.His1793_Lys1796delinsGln) n.5748_5756del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
13 | g.32340107_32340109delinsCAT | CA2082827165 | BRCA2 | c.5752_5754delinsCAT (p.His1918=) c.5383_5385delinsCAT (p.His1795=) n.5752_5754delinsCAT | |
13 | g.32340108del | CA2499222211 | BRCA2 | c.5753del (p.His1918LeufsTer?) c.5384del (p.His1795LeufsTer?) n.5753del | |
13 | g.32340108A= | CA2082827188 | BRCA2 | c.5753A= (p.His1918=) c.5384A= (p.His1795=) n.5753A= | |
13 | g.32340108A>C | CA387787028 | BRCA2 | c.5753A>C (p.His1918Pro) c.5384A>C (p.His1795Pro) n.5753A>C | gnomAD v4 |
13 | g.32340108A>G | CA023157 | BRCA2 | c.5753A>G (p.His1918Arg) c.5384A>G (p.His1795Arg) n.5753A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340108A>T | CA387787030 | BRCA2 | c.5753A>T (p.His1918Leu) c.5384A>T (p.His1795Leu) n.5753A>T | ClinVar dbSNP |
13 | g.32340109_32340110del | CA023161 | BRCA2 | c.5754_5755del (p.His1918GlnfsTer5) c.5385_5386del (p.His1795GlnfsTer5) n.5754_5755del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340109T>A | CA387787033 | BRCA2 | c.5754T>A (p.His1918Gln) c.5385T>A (p.His1795Gln) n.5754T>A | dbSNP |
13 | g.32340109T>C | CA483438902 | BRCA2 | c.5754T>C (p.His1918=) c.5385T>C (p.His1795=) n.5754T>C | |
13 | g.32340109T>G | CA387787035 | BRCA2 | c.5754T>G (p.His1918Gln) c.5385T>G (p.His1795Gln) n.5754T>G | |
13 | g.32340109dup | CA2499222212 | BRCA2 | c.5754dup (p.Lys1919Ter) c.5385dup (p.Lys1796Ter) n.5754dup | ClinVar |
13 | g.32340110A= | CA2082827198 | BRCA2 | c.5755A= (p.Lys1919=) c.5386A= (p.Lys1796=) n.5755A= | |
13 | g.32340110A>C | CA387787040 | BRCA2 | c.5755A>C (p.Lys1919Gln) c.5386A>C (p.Lys1796Gln) n.5755A>C | |
13 | g.32340110A>G | CA387787041 | BRCA2 | c.5755A>G (p.Lys1919Glu) c.5386A>G (p.Lys1796Glu) n.5755A>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32340110A>T | CA387787044 | BRCA2 | c.5755A>T (p.Lys1919Ter) c.5386A>T (p.Lys1796Ter) n.5755A>T | dbSNP |
13 | g.32340111del | CA2580087778 | BRCA2 | c.5756del (p.Lys1919ArgfsTer?) c.5387del (p.Lys1796ArgfsTer?) n.5756del | ClinVar |
13 | g.32340111A= | CA2082827204 | BRCA2 | c.5756A= (p.Lys1919=) c.5387A= (p.Lys1796=) n.5756A= | |
13 | g.32340111A>C | CA387787046 | BRCA2 | c.5756A>C (p.Lys1919Thr) c.5387A>C (p.Lys1796Thr) n.5756A>C | |
13 | g.32340111A>G | CA387787048 | BRCA2 | c.5756A>G (p.Lys1919Arg) c.5387A>G (p.Lys1796Arg) n.5756A>G | ClinVar dbSNP |
13 | g.32340111A>T | CA387787049 | BRCA2 | c.5756A>T (p.Lys1919Met) c.5387A>T (p.Lys1796Met) n.5756A>T | dbSNP |
13 | g.32340112G>A | CA483438903 | BRCA2 | c.5757G>A (p.Lys1919=) c.5388G>A (p.Lys1796=) n.5757G>A | dbSNP |
13 | g.32340112G>C | CA387787051 | BRCA2 | c.5757G>C (p.Lys1919Asn) c.5388G>C (p.Lys1796Asn) n.5757G>C | ClinVar dbSNP |
13 | g.32340112G= | CA2082827213 | BRCA2 | c.5757G= (p.Lys1919=) c.5388G= (p.Lys1796=) n.5757G= | |
13 | g.32340112G>T | CA387787052 | BRCA2 | c.5757G>T (p.Lys1919Asn) c.5388G>T (p.Lys1796Asn) n.5757G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340113G>A | CA387787054 | BRCA2 | c.5758G>A (p.Val1920Ile) c.5389G>A (p.Val1797Ile) n.5758G>A | ClinVar |
13 | g.32340113G>C | CA387787056 | BRCA2 | c.5758G>C (p.Val1920Leu) c.5389G>C (p.Val1797Leu) n.5758G>C | |
13 | g.32340113G>T | CA387787057 | BRCA2 | c.5758G>T (p.Val1920Phe) c.5389G>T (p.Val1797Phe) n.5758G>T | |
13 | g.32340113_32340114delinsGT | CA2082827221 | BRCA2 | c.5758_5759delinsGT (p.Val1920=) c.5389_5390delinsGT (p.Val1797=) n.5758_5759delinsGT | |
13 | g.32340113_32340118delinsGTTTTT | CA2082827225 | BRCA2 | c.5758_5763delinsGTTTTT (p.Val1920=) c.5389_5394delinsGTTTTT (p.Val1797=) n.5758_5763delinsGTTTTT | |
13 | g.32340114T>A | CA387787059 | BRCA2 | c.5759T>A (p.Val1920Asp) c.5390T>A (p.Val1797Asp) n.5759T>A | dbSNP |
13 | g.32340114T>C | CA387787062 | BRCA2 | c.5759T>C (p.Val1920Ala) c.5390T>C (p.Val1797Ala) n.5759T>C | ClinVar |
13 | g.32340114T>G | CA387787063 | BRCA2 | c.5759T>G (p.Val1920Gly) c.5390T>G (p.Val1797Gly) n.5759T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340114_32340118del | CA609453789 | BRCA2 | c.5759_5763del (p.Val1920GlyfsTer2) c.5390_5394del (p.Val1797GlyfsTer2) n.5759_5763del | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340118dup | CA023171 | BRCA2 | c.5763dup (p.Ala1922CysfsTer2) c.5394dup (p.Ala1799CysfsTer2) n.5763dup | ClinVar dbSNP |
13 | g.32340118del | CA023173 | BRCA2 | c.5763del (p.Phe1921LeufsTer?) c.5394del (p.Phe1798LeufsTer?) n.5763del | ClinVar dbSNP |
13 | g.32340114_32340125delinsTTTTTGCTGACA | CA2082827240 | BRCA2 | c.5759_5770delinsTTTTTGCTGACA (p.Val1920=) c.5390_5401delinsTTTTTGCTGACA (p.Val1797=) n.5759_5770delinsTTTTTGCTGACA | |
13 | g.32340115T>A | CA483438904 | BRCA2 | c.5760T>A (p.Val1920=) c.5391T>A (p.Val1797=) n.5760T>A | ClinVar dbSNP |
13 | g.32340115T>C | CA483438905 | BRCA2 | c.5760T>C (p.Val1920=) c.5391T>C (p.Val1797=) n.5760T>C | |
13 | g.32340115T>G | CA483438906 | BRCA2 | c.5760T>G (p.Val1920=) c.5391T>G (p.Val1797=) n.5760T>G | |
13 | g.32340117_32340127del | CA913190954 | BRCA2 | c.5762_5772del (p.Phe1921SerfsTer3) c.5393_5403del (p.Phe1798SerfsTer3) n.5762_5772del | ClinVar dbSNP |
13 | g.32340116T>A | CA387787065 | BRCA2 | c.5761T>A (p.Phe1921Ile) c.5392T>A (p.Phe1798Ile) n.5761T>A | dbSNP |
13 | g.32340116T>C | CA387787067 | BRCA2 | c.5761T>C (p.Phe1921Leu) c.5392T>C (p.Phe1798Leu) n.5761T>C | |
13 | g.32340116T>G | CA387787071 | BRCA2 | c.5761T>G (p.Phe1921Val) c.5392T>G (p.Phe1798Val) n.5761T>G | |
13 | g.32340117T>A | CA387787073 | BRCA2 | c.5762T>A (p.Phe1921Tyr) c.5393T>A (p.Phe1798Tyr) n.5762T>A | dbSNP |
13 | g.32340117T>C | CA387787074 | BRCA2 | c.5762T>C (p.Phe1921Ser) c.5393T>C (p.Phe1798Ser) n.5762T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340117T>G | CA387787076 | BRCA2 | c.5762T>G (p.Phe1921Cys) c.5393T>G (p.Phe1798Cys) n.5762T>G | dbSNP |